ClinVar Miner

Submissions for variant NM_006282.5(STK4):c.36-12C>G

gnomAD frequency: 0.00591  dbSNP: rs112812069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513810 SCV001721498 benign Combined immunodeficiency due to STK4 deficiency 2024-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717788 SCV005311872 benign not provided criteria provided, single submitter not provided

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